All inquiries, additions to the list, and comments should be made to Bill Copeland.
Amino Acid Substitution: C224Y
cDNA Position: 671 g→a (exon 3)
|Alpers||Sarzi et al. 2007 reported 2% (n=50) of patients with multiple respiratory chain deficiency with a 35% decrease of mtDNA||(Sarzi et al. 2007)